Results 71 to 80 of about 5,463 (156)
Emerging directions in tauopathy research
Abstract The Tau Global Conference 2025, hosted by the Alzheimer's Association, CurePSP, and the Rainwater Charitable Foundation, convened international experts from academia, industry, government, and philanthropy to explore advances and challenges in tauopathy research. The meeting highlighted progress across tau biology, including emerging models of
Luc Buée +41 more
wiley +1 more source
Background: Static encephalopathy of childhood with neurodegeneration in adulthood is a phenotypically distinctive, X-linked dominant subtype of neurodegeneration with brain iron accumulation (NBIA). WDR45 mutations were recently ...
Andreas Hermann +7 more
doaj +1 more source
The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype
Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli +4 more
wiley +1 more source
Abstract Patients with atypical variants of Alzheimer's disease (AD) often present at a younger age with predominantly non‐amnestic impairments and a more aggressive disease course. Historically, individuals with atypical presentations have not been included in large‐scale clinical trials, which typically focus on late‐onset, sporadic amnestic ...
Nick Corriveau‐Lecavalier +36 more
wiley +1 more source
Basal ganglia function in parkinsonism and dystonia [PDF]
Parkinsonism and dystonia are movement disorders linked with abnormal function of the basal ganglia. The most common cause of parkinsonism, Parkinson’s disease (PD), is caused by loss of dopaminergic neurons in the nigrostriatal tract, leading to ...
Honkanen, Emma
core
Systematic assessment of the mouse TATA-box binding protein-associated factor 1 locus reveals novel messenger RNA isoforms and differential protein distribution across brain regions [PDF]
TATA-box binding protein-associated factor 1 (TAF1) is the largest component of transcription factor IID, a fundamental multi-protein complex for RNA polymerase II-mediated transcription.
Peihang Li +5 more
doaj +1 more source
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
Brain–Computer Interfaces: The Dawn of a New Era in Disease Treatment
This study investigates the potential of brain–computer interface (BCI) technology in treating neuropsychiatric disorders, such as movement and communication barriers. Our review examines the history, signal paradigms, and diverse applications of BCI while also discussing ongoing research into novel materials and emerging technologies that offer ...
Yuqi Feng +11 more
wiley +1 more source
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential ...
Yechiam Sapir +27 more
core +1 more source

